Blue People of Kentucky

A pedigree study

Troublesome Creek

• 6 generations ago after a French orphan named Martin Fugate claimed a land grant in 1820 and settled on the banks of eastern Kentucky's Troublesome Creek,

Eastern Kentucky

• Coal Country, Hazard County

He came with…

• his red-headed American bride, the former Elizabeth Smith, whose skin was as pale as the mountain laurel that blooms.

Fugates had 7 children

• The father and four of the children are "blue".

John Stacey married Luna Fugate

• "the bluest woman I ever saw

Married a lot of Kin

• Lived in the holler

• Did not get out much

• Might marry the girl next door, even is she had the same last name.

Pedigree of the Fugates of Troublesome Creek

What does it mean?

• Fugate Phenotypes and Gentoypes

Pedigree Symbols

CLICK

• Genetic Cases

Luna’s Pedigree

Figuring out the problem

• Dr. Madison Cawein was a hematologist at the University of Kentucky Medical Center when he heard stories about the blue people.

What causes the blue?

• Carries oxygen No oxygen

• In reduced state oxidized state

Lacking an enzyme: diaphorase

• On chromosome 22

Different levels of blue

Interpret

NADH Diaphorase Activity in Blue People

• Red blood cells (RBC) from blue people are deficient in NADH diaphorase activity and cannot reduce the oxidized iron in methemoglobin (metHb).

METHEMOGLOBINEMIA

• Is a disorder that lacks the enzyme for the hemoglobin to take in oxygen.

Dr. Cawein’s Treatment

• He injected Patrick and Rachel with methylene blue and within a few minutes, they both turned pink!